Incidental Mutation 'R2156:Mfn1'
ID 234786
Institutional Source Beutler Lab
Gene Symbol Mfn1
Ensembl Gene ENSMUSG00000027668
Gene Name mitofusin 1
Synonyms D3Ertd265e, 6330416C07Rik, HR2, 2310002F04Rik
MMRRC Submission 040159-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2156 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 32583614-32633388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32588400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 42 (N42K)
Ref Sequence ENSEMBL: ENSMUSP00000117411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091257] [ENSMUST00000118286] [ENSMUST00000137565] [ENSMUST00000147350]
AlphaFold Q811U4
Predicted Effect possibly damaging
Transcript: ENSMUST00000091257
AA Change: N42K

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668
AA Change: N42K

DomainStartEndE-ValueType
Pfam:MMR_HSR1 77 237 1.7e-6 PFAM
Pfam:Dynamin_N 78 238 3.9e-24 PFAM
low complexity region 315 326 N/A INTRINSIC
low complexity region 394 405 N/A INTRINSIC
Pfam:Fzo_mitofusin 575 735 1.2e-78 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000118286
AA Change: N42K

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668
AA Change: N42K

DomainStartEndE-ValueType
Pfam:MMR_HSR1 77 237 1.2e-6 PFAM
Pfam:Dynamin_N 78 238 5e-24 PFAM
low complexity region 315 326 N/A INTRINSIC
low complexity region 394 405 N/A INTRINSIC
Pfam:Fzo_mitofusin 567 737 6.3e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125182
Predicted Effect possibly damaging
Transcript: ENSMUST00000137565
AA Change: N42K

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117411
Gene: ENSMUSG00000027668
AA Change: N42K

DomainStartEndE-ValueType
Pfam:MMR_HSR1 77 188 3.8e-6 PFAM
Pfam:Dynamin_N 78 189 5.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147350
AA Change: N42K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116380
Gene: ENSMUSG00000027668
AA Change: N42K

DomainStartEndE-ValueType
Pfam:MMR_HSR1 77 237 3.6e-8 PFAM
Pfam:Dynamin_N 78 238 1.5e-25 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die in mid gestation. Structural and functional abnormalities of mitochondria are reported. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T A 11: 58,313,134 (GRCm39) probably null Het
Acaa2 T C 18: 74,926,476 (GRCm39) probably null Het
Adam7 T C 14: 68,748,792 (GRCm39) Q485R probably benign Het
Adcy4 T G 14: 56,006,627 (GRCm39) T1069P probably benign Het
Arsj T C 3: 126,232,337 (GRCm39) L361P probably damaging Het
Birc2 A C 9: 7,826,939 (GRCm39) L349R probably damaging Het
C1qa T C 4: 136,623,727 (GRCm39) Y159C probably damaging Het
Cdh13 A G 8: 119,963,703 (GRCm39) K428E probably damaging Het
Cenpe T C 3: 134,953,235 (GRCm39) M1563T probably benign Het
Col10a1 T C 10: 34,271,696 (GRCm39) V556A probably benign Het
Creg2 G A 1: 39,662,338 (GRCm39) L265F probably damaging Het
Cyp1a2 T A 9: 57,589,433 (GRCm39) D127V probably damaging Het
Cyp3a44 A T 5: 145,740,480 (GRCm39) Y53* probably null Het
Cyth1 C T 11: 118,073,634 (GRCm39) R233Q probably damaging Het
Dnmbp G A 19: 43,890,346 (GRCm39) H474Y possibly damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Ercc2 G A 7: 19,120,717 (GRCm39) R206H possibly damaging Het
Evx2 T A 2: 74,486,360 (GRCm39) H343L probably damaging Het
Fcrl2 T A 3: 87,164,648 (GRCm39) I293F probably benign Het
Gcnt4 A G 13: 97,082,974 (GRCm39) E90G probably damaging Het
Gid8 T G 2: 180,358,751 (GRCm39) C139G probably benign Het
Gm11938 C A 11: 99,493,933 (GRCm39) C54F probably damaging Het
Gm3336 G A 8: 71,174,509 (GRCm39) V158I probably benign Het
Gucy1b1 T C 3: 81,968,327 (GRCm39) N60D probably benign Het
Hdac7 T C 15: 97,691,944 (GRCm39) K810E probably benign Het
Hsp90ab1 A G 17: 45,880,629 (GRCm39) F361L possibly damaging Het
Igf2bp3 A T 6: 49,085,858 (GRCm39) probably null Het
Inpp4b T A 8: 82,775,118 (GRCm39) I772N probably damaging Het
Iqca1 A G 1: 90,017,238 (GRCm39) L390P possibly damaging Het
Itgb2 C T 10: 77,396,082 (GRCm39) R586W probably benign Het
Itih1 A G 14: 30,655,432 (GRCm39) S588P possibly damaging Het
Iyd T A 10: 3,497,166 (GRCm39) probably null Het
Kl A G 5: 150,912,425 (GRCm39) K725E probably benign Het
Layn T A 9: 50,968,697 (GRCm39) M349L probably benign Het
Map3k5 T C 10: 19,900,683 (GRCm39) Y286H probably damaging Het
Med4 C T 14: 73,755,472 (GRCm39) probably benign Het
Mindy2 T C 9: 70,563,874 (GRCm39) D152G probably benign Het
Mrc2 A G 11: 105,238,682 (GRCm39) probably null Het
Mrpl11 C A 19: 5,012,497 (GRCm39) A26E probably damaging Het
Msh6 G A 17: 88,293,568 (GRCm39) W774* probably null Het
Mtch1 A T 17: 29,561,841 (GRCm39) V121E probably damaging Het
Mtg2 G T 2: 179,725,923 (GRCm39) E178* probably null Het
Nbas A T 12: 13,491,510 (GRCm39) N1461Y probably damaging Het
Ndfip2 A G 14: 105,525,204 (GRCm39) T65A probably benign Het
Ninl G T 2: 150,786,503 (GRCm39) Q1146K probably damaging Het
Notch1 T C 2: 26,350,873 (GRCm39) D2089G possibly damaging Het
Notch3 C T 17: 32,366,818 (GRCm39) V906M probably damaging Het
Or51l14 A G 7: 103,101,371 (GRCm39) I276V probably benign Het
Or6b6 A G 7: 106,570,775 (GRCm39) Y259H probably damaging Het
Osmr A T 15: 6,873,891 (GRCm39) Y169N probably benign Het
Ovgp1 T C 3: 105,885,033 (GRCm39) V124A possibly damaging Het
P2rx1 T C 11: 72,904,939 (GRCm39) M369T probably benign Het
Pde4dip T C 3: 97,631,534 (GRCm39) Q1125R probably damaging Het
Podn A T 4: 107,878,892 (GRCm39) V180E probably damaging Het
Pold1 A T 7: 44,188,542 (GRCm39) V475E probably damaging Het
Polg A G 7: 79,111,468 (GRCm39) I261T possibly damaging Het
Satb1 G T 17: 52,047,438 (GRCm39) Q595K probably benign Het
Scaf8 T A 17: 3,214,407 (GRCm39) probably null Het
Semp2l1 T A 1: 32,585,128 (GRCm39) M261L probably benign Het
Serpinb3a C T 1: 106,975,202 (GRCm39) probably null Het
Slc22a26 T C 19: 7,779,480 (GRCm39) D112G probably damaging Het
Slc25a23 A G 17: 57,352,562 (GRCm39) F441L probably benign Het
Slc25a53 T C X: 135,884,216 (GRCm39) T42A probably damaging Het
Slc6a15 T C 10: 103,229,269 (GRCm39) Y103H probably damaging Het
Slx4 A G 16: 3,804,223 (GRCm39) S864P probably benign Het
Snap91 T C 9: 86,707,130 (GRCm39) E220G probably damaging Het
Spam1 T C 6: 24,796,267 (GRCm39) F73L probably damaging Het
Sphkap C T 1: 83,255,710 (GRCm39) V393M probably benign Het
Spred2 T C 11: 19,971,241 (GRCm39) Y370H probably damaging Het
Sqle T C 15: 59,195,578 (GRCm39) probably null Het
Srrm2 A G 17: 24,037,237 (GRCm39) T1390A probably benign Het
Tas1r2 A G 4: 139,396,352 (GRCm39) R564G possibly damaging Het
Tbl2 G T 5: 135,185,374 (GRCm39) probably null Het
Tcof1 T C 18: 60,964,901 (GRCm39) D606G possibly damaging Het
Tdpoz3 T A 3: 93,734,087 (GRCm39) L254H probably damaging Het
Trpm1 A T 7: 63,884,736 (GRCm39) I806F probably damaging Het
Ttc22 A G 4: 106,496,237 (GRCm39) D429G probably benign Het
Ube2o C A 11: 116,471,972 (GRCm39) G90C probably damaging Het
Usp34 T A 11: 23,332,602 (GRCm39) F1110I probably damaging Het
Vmn2r82 T C 10: 79,214,722 (GRCm39) L235P probably damaging Het
Vps35 A G 8: 86,013,129 (GRCm39) V116A probably benign Het
Wdfy3 A G 5: 102,046,291 (GRCm39) probably null Het
Zeb2 T C 2: 44,878,821 (GRCm39) K1138E probably benign Het
Zfp513 G A 5: 31,357,866 (GRCm39) T169I probably benign Het
Zfp629 T C 7: 127,211,551 (GRCm39) D86G probably benign Het
Other mutations in Mfn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Mfn1 APN 3 32,596,985 (GRCm39) missense probably damaging 1.00
IGL01687:Mfn1 APN 3 32,617,515 (GRCm39) splice site probably benign
IGL02743:Mfn1 APN 3 32,628,439 (GRCm39) missense probably benign 0.10
PIT4520001:Mfn1 UTSW 3 32,615,695 (GRCm39) missense probably benign
R0039:Mfn1 UTSW 3 32,592,416 (GRCm39) splice site probably benign
R0571:Mfn1 UTSW 3 32,615,621 (GRCm39) missense probably damaging 1.00
R0920:Mfn1 UTSW 3 32,588,385 (GRCm39) critical splice acceptor site probably null
R1661:Mfn1 UTSW 3 32,588,471 (GRCm39) missense probably benign 0.00
R1665:Mfn1 UTSW 3 32,588,471 (GRCm39) missense probably benign 0.00
R2153:Mfn1 UTSW 3 32,596,975 (GRCm39) missense probably damaging 1.00
R2260:Mfn1 UTSW 3 32,617,575 (GRCm39) nonsense probably null
R2420:Mfn1 UTSW 3 32,623,664 (GRCm39) missense probably benign 0.21
R3864:Mfn1 UTSW 3 32,617,241 (GRCm39) missense possibly damaging 0.89
R4079:Mfn1 UTSW 3 32,596,998 (GRCm39) missense probably damaging 1.00
R4162:Mfn1 UTSW 3 32,617,147 (GRCm39) splice site probably benign
R4897:Mfn1 UTSW 3 32,600,711 (GRCm39) intron probably benign
R5115:Mfn1 UTSW 3 32,618,456 (GRCm39) critical splice donor site probably null
R5276:Mfn1 UTSW 3 32,618,354 (GRCm39) missense probably benign 0.39
R5590:Mfn1 UTSW 3 32,617,996 (GRCm39) missense probably benign 0.00
R5629:Mfn1 UTSW 3 32,615,659 (GRCm39) missense possibly damaging 0.83
R6110:Mfn1 UTSW 3 32,617,173 (GRCm39) missense probably benign 0.01
R6114:Mfn1 UTSW 3 32,617,985 (GRCm39) missense probably damaging 1.00
R6560:Mfn1 UTSW 3 32,623,665 (GRCm39) missense probably damaging 0.96
R6891:Mfn1 UTSW 3 32,631,252 (GRCm39) missense possibly damaging 0.49
R7053:Mfn1 UTSW 3 32,586,114 (GRCm39) missense probably benign 0.00
R7071:Mfn1 UTSW 3 32,622,544 (GRCm39) missense probably benign 0.00
R7182:Mfn1 UTSW 3 32,618,369 (GRCm39) missense probably damaging 1.00
R8190:Mfn1 UTSW 3 32,622,538 (GRCm39) missense possibly damaging 0.88
R8998:Mfn1 UTSW 3 32,623,683 (GRCm39) missense possibly damaging 0.79
R8999:Mfn1 UTSW 3 32,623,683 (GRCm39) missense possibly damaging 0.79
R9255:Mfn1 UTSW 3 32,598,287 (GRCm39) missense possibly damaging 0.91
R9619:Mfn1 UTSW 3 32,628,478 (GRCm39) missense possibly damaging 0.50
Z1177:Mfn1 UTSW 3 32,618,440 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GATAATCCTTTCAGAGGGCATTTAC -3'
(R):5'- CTATGAGCACGAAAAGGTGACC -3'

Sequencing Primer
(F):5'- CCTTTCAGAGGGCATTTACTTTTAG -3'
(R):5'- GGTGACCTGTGCAAAGAACCTC -3'
Posted On 2014-10-01